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Disease Profile
Holoprosencephaly
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
Q04.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
HPE
Categories
Endocrine Diseases
Summary
Holoprosencephaly is an abnormality of brain development in which the brain doesn't properly divide into the right and left hemispheres. The condition can also affect development of the head and face. There are 4 types of holoprosencephaly, distinguished by severity. From most to least severe, the 4 types are alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV).[1] In general, the severity of any facial defects corresponds to the severity of the brain defect. The most severely affected people have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. In the less severe forms, the brain is only partially divided, and the eyes usually are set close together. Other signs and symptoms often include
Symptoms
- Alobar holoprosencephaly is when there is a complete failure of the brain to divide into right and left hemispheres which results in the loss of midline structures of the brain and face as well as fusion of the cavities of the brain, known as lateral ventricles and the third ventricle (which are normally separated). Facial findings may include a single eye (cyclopia) or very closely spaced eyes (ethmocephaly) or absent eyes (anophthalmia), or very small eye (microphthalmia) with a tubular-shaped nose (proboscis); or closely spaced eyes (hypotelorism) and a flattened nose or
cleft lip that occurs in the middle of the lip (median cleft lip) or on both sides (bilateral cleft lip). In some cases the face make look almost normal (especially in persons with variants (mutations ) in the ZIC2 gene) - Semi-lobar holoprosencephaly occurs when the left side of the brain is fused to the right side in the areas of the brain known as the frontal (front) and parietal lobes (sides of the brain). Also, the dividing line between the right and left hemispheres of the brain (known as the interhemispheric fissure) is only present in the back of the brain. People with semi-lobar holoprosencephaly may have hypotelorism, microphthalmia or anophthalmia. Other features may include a flattened bridge and tip of the nose, one nostril, a median cleft lip or bilateral cleft lip, and a
cleft palate . - Lobar holoprosencephaly, is when there are two ventricles (right and left) but the cerebral hemispheres are fused in the frontal cortex. Features may include bilateral cleft lip , closely spaced eyes, depressed nose or an almost normal looking face.
- Middle interhemispheric variant results when the brain is fused in the middle. Signs may include closely spaced eyes, depressed and narrow nose or an almost normal looking face.
Other signs and symptoms may include
Holoprosencephaly may be part of several genetic
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
|
---|---|---|---|
80%-99% of people have these symptoms | |||
Abnormal facial shape |
Unusual facial appearance
|
0001999 | |
Bilateral cleft lip |
Both sided cleft lip
Right and left cleft lip
[ more ] |
0100336 | |
Holoprosencephaly | 0001360 | ||
Median cleft lip and palate |
Central cleft lip and palate
Midline cleft lip/palate
[ more ] |
0008501 | |
Single median maxillary incisor |
Only one upper front tooth
|
0006315 | |
30%-79% of people have these symptoms | |||
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] |
0000528 | |
Anosmia |
Lost smell
|
0000458 | |
Aplasia/Hypoplasia of the |
0007370 | ||
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 | |
Cyclopia |
Cyclops eye
Single central eye
[ more ] |
0009914 | |
Depressed nasal ridge |
Flat nose
Recessed nasal ridge
[ more ] |
0000457 | |
0000819 | |||
0001332 | |||
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 | |
Global developmental delay | 0001263 | ||
Low blood sugar
|
0001943 | ||
Hyposmia | 0004409 | ||
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ] |
0000601 | |
Iris coloboma |
Cat eye
|
0000612 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | ||
Microphthalmia |
Abnormally small eyeball
|
0000568 | |
Muscle weakness |
Muscular weakness
|
0001324 | |
Muscular |
Low or weak muscle tone
|
0001252 | |
Reduced number of teeth |
Decreased tooth count
|
0009804 | |
Seizure | 0001250 | ||
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | ||
5%-29% of people have these symptoms | |||
Abnormal aortic morphology | 0001679 | ||
Abnormal form of the vertebral bodies | 0003312 | ||
Abnormal pulmonary valve morphology | 0001641 | ||
Abnormality of neuronal migration | 0002269 | ||
Abnormality of the antihelix | 0009738 | ||
Abnormality of the spleen | 0001743 | ||
Absent nares |
Missing nostrils
|
0100596 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 | |
Aplasia/Hypoplasia involving the nose |
Decreased nasal size
Decreased size of nose
[ more ] |
0009924 | |
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 | |
Aplasia/Hypoplasia of the lungs |
Absent/small lungs
Absent/underdeveloped lungs
[ more ] |
0006703 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ] |
0011675 | |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 | |
Short fingers or toes
|
0001156 | ||
Branchial anomaly | 0009794 | ||
Broad philtrum | 0000289 | ||
Chorea | 0002072 | ||
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 | |
0000776 | |||
Constipation | 0002019 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | |
Dandy-Walker malformation | 0001305 | ||
Deep philtrum |
DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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